Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases - Full Text View

Purpose

The purpose of this protocol is to identify families with inherited neurologic conditions, especially movement disorders, to evaluate affected and unaffected individuals clinically, and to obtain blood samples for genetic analysis.

Condition
Movement Disorders Myoclonus Nervous System Diseases Tic Disorders Tremor


Study Type:	Observational
Official Title:	Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases

Resource links provided by NLM:

MedlinePlus related topics: Movement Disorders Neurologic Diseases

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):


Estimated Enrollment:	300
Study Start Date:	March 1997
Estimated Study Completion Date:	April 2000

Detailed Description:

The purpose of this protocol is to identify families with inherited neurologic conditions, especially movement disorders, to evaluate affected and unaffected individuals clinically, and to obtain blood samples for genetic analysis.

Eligibility


Ages Eligible for Study:	Child, Adult, Senior
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

Criteria

Neurologic disease or movement disorders affecting 2 or more family members.

No conditions in which phlebotomy is contra-indicated.

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001667

Locations


United States, Maryland
National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

More Information

Publications:

Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology. 1996 Jan;46(1):208-13.

Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Júnior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology. 1996 Jan;46(1):214-8.

Ichinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, Rouse B, Matalon R, Fujita K, Nagatsu T. Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem. 1995 Apr 28;270(17):10062-71.


ClinicalTrials.gov Identifier:	NCT00001667 History of Changes
Other Study ID Numbers:	970097 97-N-0097
Study First Received:	November 3, 1999
Last Updated:	March 3, 2008

Keywords provided by National Institutes of Health Clinical Center (CC):


Family Studies Genetic Myoclonus Tics	Tremor Movement Disorders Neurological Disease

Additional relevant MeSH terms:


Myoclonus Disease Tremor Nervous System Diseases Movement Disorders Tic Disorders Tics	Pathologic Processes Dyskinesias Neurologic Manifestations Signs and Symptoms Central Nervous System Diseases Neurodevelopmental Disorders Mental Disorders

ClinicalTrials.gov processed this record on August 17, 2017